Inherited protein S deficiency due to a novel nonsense mutation in the PROS1 gene in the patient with recurrent vascular access thrombosis: A case report
Kidney Research and Clinical Practice
;
: 72-75, 2012.
Article
Dans Anglais
| WPRIM
| ID: wpr-13104
ABSTRACT
Vascular access thrombosis is one of the major causes of morbidity in patients maintained on chronic hemodialysis. Thrombophilia has been recognized as a risk factor of vascular access thrombosis. The authors report a case of inherited protein S deficiency associated with vascular access thrombotic events. DNA sequence analysis of the PROS1 gene identified a novel heterozygous nonsense mutation in exon 10 by transition of AAG (lysine) to TAG (stop codon) at codon 473 (c.1417A>T, p.K473X). Results from the study suggest that the inherited protein S deficiency due to a PROS1 gene mutation may cause vascular access thrombosis in hemodialysis patients.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Thrombose
/
Codon
/
Exons
/
Facteurs de risque
/
Dialyse rénale
/
Analyse de séquence d'ADN
/
Protéine S
/
Déficit en protéine S
/
Codon non-sens
/
Thrombophilie
Type d'étude:
Etude d'étiologie
/
Étude pronostique
/
Facteurs de risque
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Kidney Research and Clinical Practice
Année:
2012
Type:
Article
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